HYDIN HYDIN axonemal central pair apparatus protein
Gene ID: 54768, updated on 19-Sep-2024Gene type: protein coding
Also known as: CILD5; HYDIN1; HYDIN2; PPP1R31
- See all available tests in GTR for this gene
- Go to complete Gene record for HYDIN
- Go to Variation Viewer for HYDIN variants
Summary
This gene encodes a protein that may be involved in cilia motility. Mutations in this gene cause of autosomal recessive primary ciliary dyskinesia-5, a disorder characterized by the accumulation of cerebrospinal fluid within the ventricles of the brain. A duplicate copy of this gene has been found in humans on chromosome 1. [provided by RefSeq, Jan 2013]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease. GeneReviews: Not available | |
| Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease. GeneReviews: Not available | |
| Primary ciliary dyskinesia 5 | See labs |
Genomic context
- Location:
- 16q22.2
- Sequence:
- Chromosome: 16; NC_000016.10 (70802084..71230722, complement)
- Total number of exons:
- 86
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for HYDIN variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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